SOX10 mutations mimic isolated hearing loss. (6th November 2014)

• Record Type: Journal Article
• Authors: Pingault, V.; Faubert, E.; Baral, V.; Gherbi, S.; Loundon, N.; Couloigner, V.; Denoyelle, F.; Noël‐Pétroff, N.; Ducou Le Pointe, H.; Elmaleh‐Bergès, M.; Bondurand, N.; Marlin, S.
• Is Part Of: Clinical genetics. Volume 88:Number 4(2015:Oct.)
• Page Start: 352
• Page End: 359
• Publication Date: 2014-11-06
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12506
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12506-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12506-para-0001">Ninety genes have been identified to date that are involved in non‐syndromic hearing loss, and more than 300 different forms of syndromic hearing impairment have been described. Mutations in <italic>SOX10</italic>, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. In addition, rare mutations have been identified in patients with isolated signs of these diseases. We used the recent characterization of temporal bone imaging aspects in patients with <italic>SOX10</italic> mutations to identify possible patients with isolated hearing loss due to <italic>SOX10</italic> mutation. We selected 21 patients with isolated deafness and temporal bone morphological defects for mutational screening. We identified two <italic>SOX10</italic> mutations and found that both resulted in a non‐functional protein <italic>in vitro</italic>. Re‐evaluation of the two affected patients showed that both had previously undiagnosed olfactory defects. Diagnosis of anosmia or hyposmia in young children is challenging, and particularly in the absence of magnetic resonance imaging (MRI), <italic>SOX10</italic> mutations can mimic non‐syndromic hearing impairment. MRI should complete temporal bones computed tomographic scan in the management of congenital deafness as it can detect brain anomalies, cochlear nerve defects, and olfactory bulb malformation in addition to inner ear malformations.</p> </abstract>